- Analytes
- ABCA3
ABCA3
Name: |
ATP binding cassette subfamily A member 3
|
Symbol: |
ABCA3
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
ABC-C
EST111653
LBM180
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 100.00 0 NM_001089.2 ACD 100.00 0 NM_001082486.1 CSF2RA 100.00 0 NM_006140.4 CSF2RB 100.00 0 NM_000395.2 DKC1 100.00 0 NM_001363.4 GATA2 100.00 0 NM_032638.4 GBA1 100.00 0 NM_001005741.2 HPS1 100.00 0 NM_000195.3 HPS4 100.00 0 NM_022081.5 NHP2 100.00 0 NM_017838.3 NKX2-1 100.00 0 NM_001079668.2 PARN 100.00 0 NM_002582.3 RTEL1 100.00 0 NM_032957.4 SFTPA1 100.00 0 NM_005411.4 SFTPA2 100.00 0 NM_001098668.2 SFTPC 100.00 0 NM_003018.3 SLC34A2 100.00 0 NM_006424.2 SMPD1 100.00 0 NM_000543.4 TERC 100.00 0 NR_001566.1 TERT 100.00 0 NM_198253.2 TINF2 100.00 0 NM_001099274.1 -
Respiratory Disorders panel (137 genes) - Ugent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 99.96 1 ABCC8 99.98 1 ACVRL1 99.88 1 AP3B1 99.89 1 AQP1 99.99 1 ARHGEF1 99.97 1 ASAH1 99.90 1 ASCL1 99.82 1 ATP13A3 99.84 1 ATP6AP1 100.00 1 BDNF 100.00 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMP10 99.96 1 BMPR1B 99.61 1 BMPR2 99.95 1 CARD11 99.97 1 CAV1 99.97 1 CCDC39 99.74 1 CCDC40 100.00 1 CD19 99.98 1 CD81 99.97 1 CIITA 99.99 1 CLEC1A 99.97 1 CLEC7A 99.98 1 COPA 99.61 1 CR2 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 DKC1 99.59 1 DNAAF1 99.99 1 DNAAF2 99.91 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAH9 99.79 1 DOCK8 99.86 1 DTNBP1 99.89 1 EFEMP2 99.94 1 EIF2AK4 99.97 1 ELMOD2 99.80 1 ELN 99.86 1 ENG 100.00 1 ERBIN 99.69 1 FAM111B 99.98 1 FARSA 100.00 1 FARSB 99.64 1 FBLN5 100.00 1 FLNA 99.99 1 FNIP1 99.87 1 FOXF1 99.99 1 FOXP3 99.93 1 GARS1 99.93 1 GATA2 99.99 1 GBA1 96.92 1 GDF2 100.00 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 IKZF1 99.92 1 IL6R 92.46 1 IL6ST 99.88 1 IRF2BP2 100.00 1 ITCH 95.57 1 ITGA3 99.86 1 KCNA5 100.00 1 KCNK3 100.00 1 KDR 99.86 1 LRBA 99.76 1 LTBP4 99.99 1 MARS1 99.97 1 MOGS 100.00 1 MS4A1 99.60 1 MUC5B 99.94 1 NFKB1 99.80 1 NFKB2 99.98 1 NKX2-1 100.00 1 NME8 99.83 1 NOD2 99.98 1 NOTCH3 99.99 1 NSMCE3 100.00 1 OAS1 99.96 1 PARN 99.75 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 POU2AF1 99.43 1 PTEN 99.89 1 RAC2 99.99 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RGPD4 71.96 1 RSPH4A 99.95 1 RSPH9 99.99 1 RTEL1 100.00 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SEC61A1 99.99 1 SERPINA1 100.00 1 SFTPA1 99.99 1 SFTPA2 99.81 1 SFTPB 99.99 1 SFTPC 99.99 1 SFTPD 99.62 1 SH3KBP1 99.95 1 SLC34A2 99.99 1 SLC7A7 99.99 1 SMAD4 99.97 1 SMAD9 99.99 1 SMPD1 100.00 1 SOX17 100.00 1 SPINK5 99.91 1 STAT3 99.97 1 STAT5B 99.50 1 STING1 99.87 1 TBX4 99.96 1 TERC 98.59 1 TERT 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TINF2 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TRNT1 99.97 1 TSC1 99.99 1 TSC2 99.98 1 ZNF341 100.00 1 -
chILD (34 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95% AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95% COPA 95.00 0 NM_004371.4/ interpretable range CS1>95% CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95% FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95% GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95% HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95% MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95% NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95% SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95% SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95% SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95% SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95% STING1 95.00 0 NM_198282.4/ interpretable range CS1>95% TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95% TERC 95.00 0 NR_001566.1/ interpretable range CS1>95% TERT 95.00 0 NM_198253.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95% MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95% PARN 95.00 0 NM_002582.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95% SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95% SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95% RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95%